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Cardiomyopathy, familial hypertrophic 27(CMH27)

MedGen UID:
1648325
Concept ID:
C4748014
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 27; CMH27
 
Gene (location): ALPK3 (15q25.3)
 
Monarch Initiative: MONDO:0054838
OMIM®: 618052

Definition

CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family. [from OMIM]

Clinical features

From HPO
Hypertrophic cardiomyopathy
MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Endocardial fibroelastosis
MedGen UID:
4041
Concept ID:
C0014117
Disease or Syndrome
Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction
Cardiac arrest
MedGen UID:
5456
Concept ID:
C0018790
Finding
An abrupt loss of heart function.
Cardiomegaly
MedGen UID:
5459
Concept ID:
C0018800
Finding
Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Tricuspid regurgitation
MedGen UID:
11911
Concept ID:
C0040961
Disease or Syndrome
Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.
Prolonged QT interval
MedGen UID:
57494
Concept ID:
C0151878
Finding
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Right ventricular hypertrophy
MedGen UID:
57981
Concept ID:
C0162770
Disease or Syndrome
In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.
Concentric hypertrophic cardiomyopathy
MedGen UID:
68651
Concept ID:
C0238044
Finding
Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.
Ventricular septal hypertrophy
MedGen UID:
138013
Concept ID:
C0344955
Finding
The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.
Left ventricular diastolic dysfunction
MedGen UID:
696562
Concept ID:
C1273070
Disease or Syndrome
Abnormal function of the left ventricule during left ventricular relaxation and filling.
Impaired myocardial contractility
MedGen UID:
870561
Concept ID:
C4025009
Disease or Syndrome
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Pterygium
MedGen UID:
46202
Concept ID:
C0033999
Finding
Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.
Non-immune hydrops fetalis
MedGen UID:
105327
Concept ID:
C0455988
Disease or Syndrome
Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).
Cardiomyocyte hypertrophy
MedGen UID:
909741
Concept ID:
C4227331
Finding
An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.

Professional guidelines

PubMed

Lopes LR, Rahman MS, Elliott PM
Heart 2013 Dec;99(24):1800-11. Epub 2013 May 14 doi: 10.1136/heartjnl-2013-303939. PMID: 23674365
Prinz C, Farr M, Hering D, Horstkotte D, Faber L
Dtsch Arztebl Int 2011 Apr;108(13):209-15. Epub 2011 Apr 1 doi: 10.3238/arztebl.2011.0209. PMID: 21505608Free PMC Article
Protonotarios N, Tsatsopoulou A, Anastasakis A, Sevdalis E, McKoy G, Stratos K, Gatzoulis K, Tentolouris K, Spiliopoulou C, Panagiotakos D, McKenna W, Toutouzas P
J Am Coll Cardiol 2001 Nov 1;38(5):1477-84. doi: 10.1016/s0735-1097(01)01568-6. PMID: 11691526

Recent clinical studies

Etiology

Heshmatzad K, Naderi N, Maleki M, Abbasi S, Ghasemi S, Ashrafi N, Fazelifar AF, Mahdavi M, Kalayinia S
J Cell Mol Med 2023 Jun;27(12):1621-1636. Epub 2023 May 15 doi: 10.1111/jcmm.17762. PMID: 37183561Free PMC Article
de Marvao A, McGurk KA, Zheng SL, Thanaj M, Bai W, Duan J, Biffi C, Mazzarotto F, Statton B, Dawes TJW, Savioli N, Halliday BP, Xu X, Buchan RJ, Baksi AJ, Quinlan M, Tokarczuk P, Tayal U, Francis C, Whiffin N, Theotokis PI, Zhang X, Jang M, Berry A, Pantazis A, Barton PJR, Rueckert D, Prasad SK, Walsh R, Ho CY, Cook SA, Ware JS, O'Regan DP
J Am Coll Cardiol 2021 Sep 14;78(11):1097-1110. doi: 10.1016/j.jacc.2021.07.017. PMID: 34503678Free PMC Article
Zhen Z, Gao L, Wang Q, Chen X, Na J, Xu X, Yuan Y
J Renin Angiotensin Aldosterone Syst 2020 Oct-Dec;21(4):1470320320978100. doi: 10.1177/1470320320978100. PMID: 33302801Free PMC Article
Norrish G, Jager J, Field E, Quinn E, Fell H, Lord E, Cicerchia MN, Ochoa JP, Cervi E, Elliott PM, Kaski JP
Circulation 2019 Jul 16;140(3):184-192. Epub 2019 Apr 22 doi: 10.1161/CIRCULATIONAHA.118.038846. PMID: 31006259Free PMC Article
Prinz C, Farr M, Hering D, Horstkotte D, Faber L
Dtsch Arztebl Int 2011 Apr;108(13):209-15. Epub 2011 Apr 1 doi: 10.3238/arztebl.2011.0209. PMID: 21505608Free PMC Article

Diagnosis

Heshmatzad K, Naderi N, Maleki M, Abbasi S, Ghasemi S, Ashrafi N, Fazelifar AF, Mahdavi M, Kalayinia S
J Cell Mol Med 2023 Jun;27(12):1621-1636. Epub 2023 May 15 doi: 10.1111/jcmm.17762. PMID: 37183561Free PMC Article
Lopes LR, Garcia-Hernández S, Lorenzini M, Futema M, Chumakova O, Zateyshchikov D, Isidoro-Garcia M, Villacorta E, Escobar-Lopez L, Garcia-Pavia P, Bilbao R, Dobarro D, Sandin-Fuentes M, Catalli C, Gener Querol B, Mezcua A, Garcia Pinilla J, Bloch Rasmussen T, Ferreira-Aguar A, Revilla-Martí P, Basurte Elorz MT, Bautista Paves A, Ramon Gimeno J, Figueroa AV, Franco-Gutierrez R, Fuentes-Cañamero ME, Martinez Moreno M, Ortiz-Genga M, Piqueras-Flores J, Analia Ramos K, Rudzitis A, Ruiz-Guerrero L, Stein R, Triguero-Bocharán M, de la Higuera L, Ochoa JP, Abu-Bonsrah D, Kwok CYT, Smith JB, Porrello ER, Akhtar MM, Jager J, Ashworth M, Syrris P, Elliott DA, Monserrat L, Elliott PM
Eur Heart J 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424. PMID: 34263907Free PMC Article
Norrish G, Jager J, Field E, Quinn E, Fell H, Lord E, Cicerchia MN, Ochoa JP, Cervi E, Elliott PM, Kaski JP
Circulation 2019 Jul 16;140(3):184-192. Epub 2019 Apr 22 doi: 10.1161/CIRCULATIONAHA.118.038846. PMID: 31006259Free PMC Article
Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, Banner NR, Pennell DJ, Graw S, Merlo M, Di Lenarda A, Sinagra G, Bos JM, Ackerman MJ, Mitchell RN, Murry CE, Lakdawala NK, Ho CY, Barton PJ, Cook SA, Mestroni L, Seidman JG, Seidman CE
N Engl J Med 2012 Feb 16;366(7):619-28. doi: 10.1056/NEJMoa1110186. PMID: 22335739Free PMC Article
Prinz C, Farr M, Hering D, Horstkotte D, Faber L
Dtsch Arztebl Int 2011 Apr;108(13):209-15. Epub 2011 Apr 1 doi: 10.3238/arztebl.2011.0209. PMID: 21505608Free PMC Article

Therapy

Bratt EL, Östman-Smith I
Cardiol Young 2015 Mar;25(3):501-10. Epub 2014 Mar 10 doi: 10.1017/S1047951114000237. PMID: 24607033Free PMC Article
Forsey J, Benson L, Rozenblyum E, Friedberg MK, Mertens L
J Am Soc Echocardiogr 2014 Feb;27(2):215-21. Epub 2013 Dec 8 doi: 10.1016/j.echo.2013.10.012. PMID: 24325958
Lopes LR, Rahman MS, Elliott PM
Heart 2013 Dec;99(24):1800-11. Epub 2013 May 14 doi: 10.1136/heartjnl-2013-303939. PMID: 23674365
Prinz C, Farr M, Hering D, Horstkotte D, Faber L
Dtsch Arztebl Int 2011 Apr;108(13):209-15. Epub 2011 Apr 1 doi: 10.3238/arztebl.2011.0209. PMID: 21505608Free PMC Article
Skinner JR, Manzoor A, Hayes AM, Joffe HS, Martin RP
Heart 1997 Mar;77(3):229-33. doi: 10.1136/hrt.77.3.229. PMID: 9093039Free PMC Article

Prognosis

Heshmatzad K, Naderi N, Maleki M, Abbasi S, Ghasemi S, Ashrafi N, Fazelifar AF, Mahdavi M, Kalayinia S
J Cell Mol Med 2023 Jun;27(12):1621-1636. Epub 2023 May 15 doi: 10.1111/jcmm.17762. PMID: 37183561Free PMC Article
Lopez-Sainz A, Dominguez F, Lopes LR, Ochoa JP, Barriales-Villa R, Climent V, Linschoten M, Tiron C, Chiriatti C, Marques N, Rasmussen TB, Espinosa MÁ, Beinart R, Quarta G, Cesar S, Field E, Garcia-Pinilla JM, Bilinska Z, Muir AR, Roberts AM, Santas E, Zorio E, Peña-Peña ML, Navarro M, Fernandez A, Palomino-Doza J, Azevedo O, Lorenzini M, García-Álvarez MI, Bento D, Jensen MK, Méndez I, Pezzoli L, Sarquella-Brugada G, Campuzano O, Gonzalez-Lopez E, Mogensen J, Kaski JP, Arad M, Brugada R, Asselbergs FW, Monserrat L, Olivotto I, Elliott PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators
J Am Coll Cardiol 2020 Jul 14;76(2):186-197. doi: 10.1016/j.jacc.2020.05.029. PMID: 32646569
Al Senaidi K, Joshi N, Al-Nabhani M, Al-Kasbi G, Al Farqani A, Al-Thihli K, Al-Maawali A
Am J Med Genet A 2019 Jul;179(7):1235-1240. Epub 2019 May 10 doi: 10.1002/ajmg.a.61176. PMID: 31074094
Norrish G, Jager J, Field E, Quinn E, Fell H, Lord E, Cicerchia MN, Ochoa JP, Cervi E, Elliott PM, Kaski JP
Circulation 2019 Jul 16;140(3):184-192. Epub 2019 Apr 22 doi: 10.1161/CIRCULATIONAHA.118.038846. PMID: 31006259Free PMC Article
Prinz C, Farr M, Hering D, Horstkotte D, Faber L
Dtsch Arztebl Int 2011 Apr;108(13):209-15. Epub 2011 Apr 1 doi: 10.3238/arztebl.2011.0209. PMID: 21505608Free PMC Article

Clinical prediction guides

Lopes LR, Garcia-Hernández S, Lorenzini M, Futema M, Chumakova O, Zateyshchikov D, Isidoro-Garcia M, Villacorta E, Escobar-Lopez L, Garcia-Pavia P, Bilbao R, Dobarro D, Sandin-Fuentes M, Catalli C, Gener Querol B, Mezcua A, Garcia Pinilla J, Bloch Rasmussen T, Ferreira-Aguar A, Revilla-Martí P, Basurte Elorz MT, Bautista Paves A, Ramon Gimeno J, Figueroa AV, Franco-Gutierrez R, Fuentes-Cañamero ME, Martinez Moreno M, Ortiz-Genga M, Piqueras-Flores J, Analia Ramos K, Rudzitis A, Ruiz-Guerrero L, Stein R, Triguero-Bocharán M, de la Higuera L, Ochoa JP, Abu-Bonsrah D, Kwok CYT, Smith JB, Porrello ER, Akhtar MM, Jager J, Ashworth M, Syrris P, Elliott DA, Monserrat L, Elliott PM
Eur Heart J 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424. PMID: 34263907Free PMC Article
Ntusi NA, Shaboodien G, Badri M, Gumedze F, Mayosi BM
Cardiovasc J Afr 2016 May/Jun;27(3):152-158. doi: 10.5830/CVJA-2015-075. PMID: 27841901Free PMC Article
Lopes LR, Rahman MS, Elliott PM
Heart 2013 Dec;99(24):1800-11. Epub 2013 May 14 doi: 10.1136/heartjnl-2013-303939. PMID: 23674365
Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, Banner NR, Pennell DJ, Graw S, Merlo M, Di Lenarda A, Sinagra G, Bos JM, Ackerman MJ, Mitchell RN, Murry CE, Lakdawala NK, Ho CY, Barton PJ, Cook SA, Mestroni L, Seidman JG, Seidman CE
N Engl J Med 2012 Feb 16;366(7):619-28. doi: 10.1056/NEJMoa1110186. PMID: 22335739Free PMC Article
Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Choi BY, Bae SW, You CW, Han KH, Park JE, Knöll R, Hoshijima M, Chien KR, Kimura A
J Am Coll Cardiol 2004 Dec 7;44(11):2192-201. doi: 10.1016/j.jacc.2004.08.058. PMID: 15582318

Recent systematic reviews

Lopes LR, Rahman MS, Elliott PM
Heart 2013 Dec;99(24):1800-11. Epub 2013 May 14 doi: 10.1136/heartjnl-2013-303939. PMID: 23674365

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